L-2-hydroxyglutaric aciduria (Q105276): Difference between revisions
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Revision as of 11:23, 17 August 2026
L-2-hydroxyglutaric aciduria is a primarily neurological form of 2- hydroxyglutaric aciduria characterised by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_562958433 |
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| English | L-2-hydroxyglutaric aciduria |
L-2-hydroxyglutaric aciduria is a primarily neurological form of 2- hydroxyglutaric aciduria characterised by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy. |
